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持续性非家族性无症状性高磷酸酶血症:三例报告

Persistent non-familial asymptomatic hyperphosphatasemia: a report on three cases.

作者信息

Asami T, Gomi T, Uchiyama M

机构信息

Department of Pediatrics, School of Medicine, Niigata University, Japan.

出版信息

Acta Paediatr. 1995 Mar;84(3):346-8. doi: 10.1111/j.1651-2227.1995.tb13643.x.

Abstract

Three male children, aged 9 days, 2 years and 13 years, were found to have elevated serum alkaline phosphatase (ALP) activity (hyperphosphatasemia) in the absence of disease. In these three cases, elevation of ALP activity had persisted for 6-10 years. These patients did not inherit the disease from their parents. Isoenzyme determination revealed a skeletal origin of the elevated ALP in the three patients. They were diagnosed as having persistent non-familial asymptomatic hyperphosphatasemia (PNAH) which differs from transient and persistent asymptomatic familial hyperphosphatasemia. Reviewing the literature, although the term PNAH had not been used, two similar cases have been reported in a 24-year-old female and in a 27-year-old female. PNAH may be another type of benign hyperphosphatasemia.

摘要

三名男童,年龄分别为9天、2岁和13岁,在无疾病的情况下被发现血清碱性磷酸酶(ALP)活性升高(高磷酸酶血症)。在这三例中,ALP活性升高已持续6至10年。这些患者并非从父母那里遗传此病。同工酶测定显示这三名患者升高的ALP源自骨骼。他们被诊断为患有持续性非家族性无症状高磷酸酶血症(PNAH),这与短暂性和持续性无症状家族性高磷酸酶血症不同。查阅文献发现,尽管未使用PNAH这一术语,但曾报道过一名24岁女性和一名27岁女性的两例类似病例。PNAH可能是良性高磷酸酶血症的另一种类型。

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